<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Abdominal wall defects (AWDs) represent a wide spectrum of congenital anomalies which are characterized by a herniation of abdominal organs through a pathologic opening in the abdominal region. The author describes a 29-year-old pregnant woman who was prenatally found to have a living female fetus with a giant omphalocele and a spinal deformation in the lumbosacral region. An evisceration of the abdominal contents into the amnionic cavity was visible. Based on USG findings the limb-body wall complex was suggested. An amniocentesis was performed and a genetic testing identified a chromosome 17q23.1–q23.2 duplication. As the fetal anomaly was considered incompatible with life, a medical termination of the pregnancy was carried out. Postmortem examination of the fetus revealed a huge abdominoschisis with a complete evisceration of the liver, stomach, small and large intestines, spleen, and the right kidney. A severe left-sided scoliosis deformity of the spine with crooked trunk was evident. The gross findings shared the features of omphalocele and limb-body wall complex with no postnatal life expectancy. Most fetal AWDs have poor prognosis. The pathology of these conditions differ greatly and require specific prenatal evaluation and pregnancy management for each entity. Accurate assessment of AWDs will allow the identification of isolated forms with better clinical outcomes compared to associated multiple malformations with chromosomal anomalies or genetic syndromes.</p></abstract>

Abdominal wall defects (AWDs) represent a wide spectrum of congenital anomalies which are characterized by a herniation of abdominal organs through a pathologic opening in the abdominal region. The author describes a 29-year-old pregnant woman who was prenatally found to have a living female fetus with a giant omphalocele and a spinal deformation in the lumbosacral region. An evisceration of the abdominal contents into the amnionic cavity was visible. Based on USG findings the limb-body wall complex was suggested. An amniocentesis was performed and a genetic testing identified a chromosome 17q23.1–q23.2 duplication. As the fetal anomaly was considered incompatible with life, a medical termination of the pregnancy was carried out. Postmortem examination of the fetus revealed a huge abdominoschisis with a complete evisceration of the liver, stomach, small and large intestines, spleen, and the right kidney. A severe left-sided scoliosis deformity of the spine with crooked trunk was evident. The gross findings shared the features of omphalocele and limb-body wall complex with no postnatal life expectancy. Most fetal AWDs have poor prognosis. The pathology of these conditions differ greatly and require specific prenatal evaluation and pregnancy management for each entity. Accurate assessment of AWDs will allow the identification of isolated forms with better clinical outcomes compared to associated multiple malformations with chromosomal anomalies or genetic syndromes.

Congenital Abdominal Wall Defects: A Topic Review and a Case Report of a Lethal Polymalformation Syndrome with a Giant Abdominoschisis

Acta Medica Martiniana

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Abdominal wall defects (AWDs) represent a wide spectrum of congenital anomalies which are characterized by a herniation of abdominal organs through a...

Congenital Abdominal Wall Defects: A Topic Review and a Case Report of a Lethal Polymalformation Syndrome with a Giant Abdominoschisis

Published Online: Dec 21, 2020

Page range: 133 - 137

Received: Sep 03, 2020

Accepted: Oct 12, 2020

DOI: https://doi.org/10.2478/acm-2020-0015

Keywords
anterior wall defects, gastroschisis, omphalocele, limb-body wall syndrome

© 2020 V. Bartos, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Congenital Abdominal Wall Defects: A Topic Review and a Case Report of a Lethal Polymalformation Syndrome with a Giant Abdominoschisis

Published Online: Dec 21, 2020

Page range: 133 - 137

Received: Sep 03, 2020

Accepted: Oct 12, 2020

DOI: https://doi.org/10.2478/acm-2020-0015

Keywordsanterior wall defects, gastroschisis, omphalocele, limb-body wall syndrome

© 2020 V. Bartos, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Keywords
anterior wall defects, gastroschisis, omphalocele, limb-body wall syndrome